C. Ayuso

发表

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

M. Cortón, F. Blanco-Kelly, P. Mínguez, 2022, medRxiv.

Novel genes and sex differences in COVID-19 severity

Gloria L. Porras-Hurtado, M. Urioste, M. Buti, 2022, Human molecular genetics.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

R. Holt, P. Calvas, N. Chassaing, 2018, Human Genetics.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations

E. Domingo, L. Enjuanes, C. Lloréns, 2022, Pathogens.

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2022, medRxiv.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

J. van den Ende, M. McKibbin, C. Inglehearn, 2018, Genetics in Medicine.

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

M. Cortón, A. Avila-Fernandez, B. Almoguera, 2022, npj Genomic Medicine.

Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children

R. Dal-Ré, J. Carballo, I. Mahíllo-Fernández, 2015, Behavioral and Brain Functions.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

M. Cortón, E. Carreño, D. Valverde, 2022, npj Genomic Medicine.

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

Maximiliano García Torrejón, I. Mahillo, F. Rojo, 2022, Scientific Reports.

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

P. Calvas, N. Chassaing, M. Cortón, 2023, International journal of molecular sciences.

A crowdsourcing database for the copy-number variation of the Spanish population

Jose L. Fernandez-Rueda, Luis Antonio Castaño, J. Dopazo, 2023, Human Genomics.

Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study

I. Mahillo, M. Cortón, E. Paz-Artal, 2022, medRxiv.

Retinitis pigmentosa in Spain

G. Antiñolo, D. Valverde, M. Carballo, 1995 .

Identification of novel RP2 mutations in a subset of X‐linked retinitis pigmentosa families and prediction of new domains

A. Ciccodicola, M. D'urso, M. Mangino, 2001, Human mutation.

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

F. Rojo, S. Zazo, M. Cortón, 2022, GeroScience.

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

G. Antiñolo, M. Baiget, C. Ayuso, 2001, Human mutation.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

R. Holt, J. Clayton-Smith, P. Calvas, 2022, Ophthalmic genetics.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

G. Arno, F. Van den Broeck, M. De Bruyne, 2023, medRxiv.

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report

M. Cortón, B. Almoguera, F. Blanco-Kelly, 2023, Clinical genetics.

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

S. Borrego, G. Antiñolo, M. Baiget, 2000, Ophthalmic genetics.

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

J. Rosell, M. Baiget, M. García-Hoyos, 2003, Journal of medical genetics.

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Matthew A. Wiles, Ellen C. Smith, Jack D. Sanders, 2023, Nature.

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Matthew A. Wiles, Ellen C. Smith, Jack D. Sanders, 2023, Nature.

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia

P. Bovolenta, S. Rodríguez de Córdoba, C. Ayuso, 2004, American journal of medical genetics. Part A.

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

A. Afenjar, P. Lapunzina, J. Nevado, 2023, Genes.

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

P. Calvas, N. Chassaing, D. Bax, 2023, European Journal of Human Genetics.

Contribution of JAK2 mutations to T-cell lymphoblastic lymphoma development

M. Fraga, M. Piris, J. Fernández-Piqueras, 2015, Leukemia.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

A. Wyatt, J. Crolla, A. Fielder, 2007, British Journal of Ophthalmology.

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

P. Bovolenta, H. Brunner, J. Lopez-Rios, 1999, Genomics.

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

M. Bayés, M. Baiget, D. Grinberg, 1997, Genomics.

Linkage analysis in Usher syndrome type I (USH1) families from Spain.

J. Millán, M. Baiget, C. Ayuso, 1998, Journal of medical genetics.

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

J. Dopazo, F. García-García, M. Cortón, 2016, Scientific Reports.

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

J. Deleuze, M. Cortón, A. Leduc, 2023, Human Genomics.